Last week saw the launch of the UK
arm of the Personal Genome Project (PGP). This is the second major sequencing initiative launched this year in the
UK (the first being Genomics England).
Interestingly, both projects seek to sequence 100,000 genomes, and both are
fuelled by a belief that genomics is set to become a routine part of
healthcare. Yet the projects are as notable for their differences as their
similarities.

Genomics England is bankrolled by
the government, with £100 million of NHS funds earmarked for the project. The
source of funding for PGP is rather more disparate, with the PHG Foundation reporting that it is to be
funded for the next year 'by the Chinese Beijing Genomics
Institute (BGI) and commercial sequencing
and interpretation service providers Illumina, Life Technologies, and Personalis'.

Whether it can secure long-term
funding is not clear, with Science
Insider reporting that the more established US and Canadian arms are
struggling for funding. Another difference is in their approach to
confidentiality: PGP operates on the principle that research participants
share their data publicly.

Controversy
surrounding protecting the privacy of genetic research participants heightened
after the 2008 publication by Homer et al demonstrating a new technique which allowed them to re-identify
genotyped individuals or even individuals in pooled mixtures of DNA. The
publication immediately led research funders including the US National Institutes of Health and the
Wellcome Trust to place new restrictions on access to data from genome wide
association studies (GWAS).

Genetic
epidemiology, like most other biomedical research, has hitherto operated
according to a norm that seeks to ensure that research subjects are protected
by the cloak of anonymity. As far as I am aware, this remains the case for most
genomic research. The ethics
and governance framework of the UK Biobank, our flagship initiative in
this research field, states
that the organisation 'is committed to protecting the confidentiality
of data and samples'. Our other flagship initiative is Genomics England, an
organisation whose governance framework is still in development but which has already
promised to 'strictly manage
secure storage of personal data in accordance with existing NHS rules designed
to securely protect patient information'.

I am unconvinced
by the argument that the PGP’s public disclosure policy is the best response to
the difficulties of safeguarding genomic confidentiality. In a recent review of this issue, Greenbaum et al provided an alternative perspective: 'Another approach could be to learn from the legal and
banking sectors wherein privacy and confidentiality are protected while the
practitioners nevertheless manipulate and analyze large databases of highly
confidential personal and financial data. Furthermore, private information is
exchanged between many organizations ranging from large companies to small law
firms. In those cases, incentives to keep clients, as well as governmental
regulations with stiff penalties and civil and criminal repercussions, help to
prevent breaches of customer privacy'.

This carrot-and-stick approach is not a 100 percent
guarantee of good behaviour: when the incentives are strong enough, as is the
case with insider trading, then individuals may break the law. But it does provide
a significant measure of protection for individuals and corporations from the
malicious abuse or careless disclosure of their confidential data, and, as
importantly, it provides legislative support to the principle that such
protection is a reasonable expectation.

In the era of big data, the governance of personal
information requires the robust defence of such principles.

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